Allele Registry

Canonical Allele Identifier: PA2827007273

Gene: TSC2 HGNC NCBI

ClinVar RCV:

RCV000245013

RCV003626612

ClinVar Variation:

256621

HGVS (amino-acid)	Matching Registered Transcripts
NP_001305758.1:p.His548Gln	CA10587224 NM_001318829.2:c.1644C>G CA394272928 NM_001318829.2:c.1644C>A